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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.140114828_140114841del | CA2499217693 | PURA | c.647_660del (p.Ala216GlyfsTer?) | ClinVar dbSNP |
| 5 | g.140114841G>A | CA446831158 | PURA | c.660G>A (p.Glu220=) | |
| 5 | g.140114841G>C | CA361491256 | PURA | c.660G>C (p.Glu220Asp) | gnomAD v4 |
| 5 | g.140114841G>T | CA361491257 | PURA | c.660G>T (p.Glu220Asp) | |
| 5 | g.140114842G>A | CA361491258 | PURA | c.661G>A (p.Gly221Ser) | |
| 5 | g.140114842G>C | CA361491259 | PURA | c.661G>C (p.Gly221Arg) | |
| 5 | g.140114842G>T | CA361491260 | PURA | c.661G>T (p.Gly221Cys) | |
| 5 | g.140114843G>A | CA361491261 | PURA | c.662G>A (p.Gly221Asp) | |
| 5 | g.140114843G>C | CA361491262 | PURA | c.662G>C (p.Gly221Ala) | |
| 5 | g.140114843G>T | CA361491263 | PURA | c.662G>T (p.Gly221Val) | |
| 5 | g.140114844C>A | CA446831160 | PURA | c.663C>A (p.Gly221=) | |
| 5 | g.140114844C= | CA1586595517 | PURA | c.663C= (p.Gly221=) | |
| 5 | g.140114844C>G | CA446831161 | PURA | c.663C>G (p.Gly221=) | |
| 5 | g.140114844C>T | CA446831162 | PURA | c.663C>T (p.Gly221=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114845A>C | CA361491264 | PURA | c.664A>C (p.Thr222Pro) | |
| 5 | g.140114845A>G | CA361491265 | PURA | c.664A>G (p.Thr222Ala) | |
| 5 | g.140114845A>T | CA361491266 | PURA | c.664A>T (p.Thr222Ser) | gnomAD v4 |
| 5 | g.140114846C>A | CA361491267 | PURA | c.665C>A (p.Thr222Asn) | |
| 5 | g.140114846C>G | CA361491268 | PURA | c.665C>G (p.Thr222Ser) | |
| 5 | g.140114846C>T | CA361491269 | PURA | c.665C>T (p.Thr222Ile) | |
| 5 | g.140114847C>A | CA446831168 | PURA | c.666C>A (p.Thr222=) | |
| 5 | g.140114847C>G | CA446831167 | PURA | c.666C>G (p.Thr222=) | |
| 5 | g.140114847C>T | CA446831166 | PURA | c.666C>T (p.Thr222=) | ClinVar |
| 5 | g.140114848T>A | CA361491272 | PURA | c.667T>A (p.Ser223Thr) | |
| 5 | g.140114848T>C | CA361491270 | PURA | c.667T>C (p.Ser223Pro) | |
| 5 | g.140114848T>G | CA361491271 | PURA | c.667T>G (p.Ser223Ala) | COSMIC |
| 5 | g.140114849C>A | CA361491273 | PURA | c.668C>A (p.Ser223Tyr) | |
| 5 | g.140114849C= | CA1586595524 | PURA | c.668C= (p.Ser223=) | |
| 5 | g.140114849C>G | CA3437491 | PURA | c.668C>G (p.Ser223Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114849C>T | CA361491274 | PURA | c.668C>T (p.Ser223Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114850C>A | CA446831170 | PURA | c.669C>A (p.Ser223=) | |
| 5 | g.140114850C= | CA1586595531 | PURA | c.669C= (p.Ser223=) | |
| 5 | g.140114850C>G | CA446831171 | PURA | c.669C>G (p.Ser223=) | |
| 5 | g.140114850C>T | CA3437492 | PURA | c.669C>T (p.Ser223=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.140114851T>A | CA361491275 | PURA | c.670T>A (p.Leu224Met) | |
| 5 | g.140114851T>C | CA446831172 | PURA | c.670T>C (p.Leu224=) | |
| 5 | g.140114851T>G | CA361491276 | PURA | c.670T>G (p.Leu224Val) | |
| 5 | g.140114852del | CA2739275109 | PURA | c.671del (p.Leu224Ter) | ClinVar |
| 5 | g.140114852T>A | CA361491277 | PURA | c.671T>A (p.Leu224Ter) | |
| 5 | g.140114852T>C | CA361491278 | PURA | c.671T>C (p.Leu224Ser) | |
| 5 | g.140114852T>G | CA361491279 | PURA | c.671T>G (p.Leu224Trp) | |
| 5 | g.140114853G>A | CA446831174 | PURA | c.672G>A (p.Leu224=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114853G>C | CA361491280 | PURA | c.672G>C (p.Leu224Phe) | ClinVar dbSNP |
| 5 | g.140114853G= | CA1586595539 | PURA | c.672G= (p.Leu224=) | |
| 5 | g.140114853G>T | CA361491281 | PURA | c.672G>T (p.Leu224Phe) | |
| 5 | g.140114854A>C | CA361491284 | PURA | c.673A>C (p.Thr225Pro) | |
| 5 | g.140114854A>G | CA361491283 | PURA | c.673A>G (p.Thr225Ala) | |
| 5 | g.140114854A>T | CA361491282 | PURA | c.673A>T (p.Thr225Ser) | |
| 5 | g.140114855C>A | CA361491285 | PURA | c.674C>A (p.Thr225Asn) | |
| 5 | g.140114855C= | CA1586595549 | PURA | c.674C= (p.Thr225=) | |
| 5 | g.140114855C>G | CA361491287 | PURA | c.674C>G (p.Thr225Ser) | |
| 5 | g.140114855C>T | CA361491286 | PURA | c.674C>T (p.Thr225Ile) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114855_140114857delinsCTG | CA1586595546 | PURA | c.674_676delinsCTG (p.Thr225=) | |
| 5 | g.140114855_140114856insA | CA2739289803 | PURA | c.674_675insA (p.Val226CysfsTer?) | |
| 5 | g.140114856T>A | CA446831176 | PURA | c.675T>A (p.Thr225=) | |
| 5 | g.140114856T>C | CA446831178 | PURA | c.675T>C (p.Thr225=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114856T>G | CA446831179 | PURA | c.675T>G (p.Thr225=) | |
| 5 | g.140114856T= | CA1586595564 | PURA | c.675T= (p.Thr225=) | |
| 5 | g.140114858_140114859del | CA16618129 | PURA | c.677_678del (p.Val226GlyfsTer?) | ClinVar dbSNP |
| 5 | g.140114856_140114857insA | CA2695205335 | PURA | c.675_676insA (p.Val226SerfsTer?) | |
| 5 | g.140114857G>A | CA361491288 | PURA | c.676G>A (p.Val226Met) | |
| 5 | g.140114857G>C | CA361491289 | PURA | c.676G>C (p.Val226Leu) | |
| 5 | g.140114857G>T | CA361491290 | PURA | c.676G>T (p.Val226Leu) | |
| 5 | g.140114858T>A | CA361491291 | PURA | c.677T>A (p.Val226Glu) | |
| 5 | g.140114858T>C | CA361491292 | PURA | c.677T>C (p.Val226Ala) | |
| 5 | g.140114858T>G | CA361491293 | PURA | c.677T>G (p.Val226Gly) | |
| 5 | g.140114858T= | CA1586595569 | PURA | c.677T= (p.Val226=) | |
| 5 | g.140114859G>A | CA446831184 | PURA | c.678G>A (p.Val226=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114859G>C | CA446831185 | PURA | c.678G>C (p.Val226=) | |
| 5 | g.140114859G= | CA1586595576 | PURA | c.678G= (p.Val226=) | |
| 5 | g.140114859G>T | CA446831186 | PURA | c.678G>T (p.Val226=) | |
| 5 | g.140114862_140114863insTGAGGAC | CA1139659105 | PURA | c.681_682insTGAGGAC (p.Asn228Ter) | ClinVar dbSNP |
| 5 | g.140114860G>A | CA361491294 | PURA | c.679G>A (p.Asp227Asn) | |
| 5 | g.140114860G>C | CA361491295 | PURA | c.679G>C (p.Asp227His) | |
| 5 | g.140114860G>T | CA361491296 | PURA | c.679G>T (p.Asp227Tyr) | |
| 5 | g.140114861A>C | CA361491297 | PURA | c.680A>C (p.Asp227Ala) | |
| 5 | g.140114861A>G | CA361491298 | PURA | c.680A>G (p.Asp227Gly) | |
| 5 | g.140114861A>T | CA361491299 | PURA | c.680A>T (p.Asp227Val) | |
| 5 | g.140114862C>A | CA361491301 | PURA | c.681C>A (p.Asp227Glu) | |
| 5 | g.140114862C>G | CA361491300 | PURA | c.681C>G (p.Asp227Glu) | |
| 5 | g.140114862C>T | CA446831193 | PURA | c.681C>T (p.Asp227=) | gnomAD v4 |
| 5 | g.140114863A>C | CA361491302 | PURA | c.682A>C (p.Asn228His) | |
| 5 | g.140114863A>G | CA361491303 | PURA | c.682A>G (p.Asn228Asp) | |
| 5 | g.140114863A>T | CA361491304 | PURA | c.682A>T (p.Asn228Tyr) | |
| 5 | g.140114864del | CA2695205336 | PURA | c.683del (p.Asn228ThrfsTer19) | |
| 5 | g.140114864A= | CA1586595589 | PURA | c.683A= (p.Asn228=) | |
| 5 | g.140114864A>C | CA361491305 | PURA | c.683A>C (p.Asn228Thr) | |
| 5 | g.140114864A>G | CA090962 | PURA | c.683A>G (p.Asn228Ser) | dbSNP |
| 5 | g.140114864A>T | CA361491306 | PURA | c.683A>T (p.Asn228Ile) | |
| 5 | g.140114865C>A | CA361491307 | PURA | c.684C>A (p.Asn228Lys) | |
| 5 | g.140114865C>G | CA361491308 | PURA | c.684C>G (p.Asn228Lys) | |
| 5 | g.140114865C>T | CA446830696 | PURA | c.684C>T (p.Asn228=) | |
| 5 | g.140114866A= | CA1586595596 | PURA | c.685A= (p.Lys229=) | |
| 5 | g.140114866A>C | CA361491309 | PURA | c.685A>C (p.Lys229Gln) | |
| 5 | g.140114866A>G | CA361491310 | PURA | c.685A>G (p.Lys229Glu) | |
| 5 | g.140114866A>T | CA16604707 | PURA | c.685A>T (p.Lys229Ter) | ClinVar dbSNP |
| 5 | g.140114867A>C | CA361491313 | PURA | c.686A>C (p.Lys229Thr) | |
| 5 | g.140114867A>G | CA361491312 | PURA | c.686A>G (p.Lys229Arg) | |
| 5 | g.140114867A>T | CA361491311 | PURA | c.686A>T (p.Lys229Met) | |
| 5 | g.140114868G>A | CA446830697 | PURA | c.687G>A (p.Lys229=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114868G>C | CA361491314 | PURA | c.687G>C (p.Lys229Asn) | |
| 5 | g.140114868G= | CA1586595600 | PURA | c.687G= (p.Lys229=) | |
| 5 | g.140114868G>T | CA361491315 | PURA | c.687G>T (p.Lys229Asn) | |
| 5 | g.140114869C>A | CA361491316 | PURA | c.688C>A (p.Arg230Ser) | |
| 5 | g.140114869C>G | CA361491317 | PURA | c.688C>G (p.Arg230Gly) | |
| 5 | g.140114869C>T | CA361491318 | PURA | c.688C>T (p.Arg230Cys) | |
| 5 | g.140114870G>A | CA361491319 | PURA | c.689G>A (p.Arg230His) | |
| 5 | g.140114870G>C | CA361491320 | PURA | c.689G>C (p.Arg230Pro) | |
| 5 | g.140114870G>T | CA361491321 | PURA | c.689G>T (p.Arg230Leu) | |
| 5 | g.140114870_140114873delinsGCTT | CA1586595602 | PURA | c.689_692delinsGCTT (p.Arg230=) | |
| 5 | g.140114871C>A | CA446830702 | PURA | c.690C>A (p.Arg230=) | |
| 5 | g.140114871C= | CA1586595627 | PURA | c.690C= (p.Arg230=) | |
| 5 | g.140114871C>G | CA3437493 | PURA | c.690C>G (p.Arg230=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114871C>T | CA446830701 | PURA | c.690C>T (p.Arg230=) | gnomAD v4 |
| 5 | g.140114878_140114880del | CA199218 | PURA | c.697_699del (p.Phe233del) | ClinVar dbSNP |
| 5 | g.140114872T>A | CA361491322 | PURA | c.691T>A (p.Phe231Ile) | |
| 5 | g.140114872T>C | CA361491323 | PURA | c.691T>C (p.Phe231Leu) | |
| 5 | g.140114872T>G | CA361491324 | PURA | c.691T>G (p.Phe231Val) | |
| 5 | g.140114873T>A | CA361491327 | PURA | c.692T>A (p.Phe231Tyr) | |
| 5 | g.140114873T>C | CA361491326 | PURA | c.692T>C (p.Phe231Ser) | ClinVar dbSNP |
| 5 | g.140114873T>G | CA361491325 | PURA | c.692T>G (p.Phe231Cys) | ClinVar dbSNP |
| 5 | g.140114873T= | CA1586595641 | PURA | c.692T= (p.Phe231=) | |
| 5 | g.140114874C>A | CA361491328 | PURA | c.693C>A (p.Phe231Leu) | |
| 5 | g.140114874C= | CA1586595651 | PURA | c.693C= (p.Phe231=) | |
| 5 | g.140114874C>G | CA361491329 | PURA | c.693C>G (p.Phe231Leu) | |
| 5 | g.140114874C>T | CA3437494 | PURA | c.693C>T (p.Phe231=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114875T>A | CA361491330 | PURA | c.694T>A (p.Phe232Ile) | |
| 5 | g.140114875T>C | CA361491331 | PURA | c.694T>C (p.Phe232Leu) | |
| 5 | g.140114875T>G | CA361491332 | PURA | c.694T>G (p.Phe232Val) | |
| 5 | g.140114876T>A | CA361491333 | PURA | c.695T>A (p.Phe232Tyr) | |
| 5 | g.140114876T>C | CA361491334 | PURA | c.695T>C (p.Phe232Ser) | |
| 5 | g.140114876T>G | CA361491335 | PURA | c.695T>G (p.Phe232Cys) | |
| 5 | g.140114877C>A | CA361491336 | PURA | c.696C>A (p.Phe232Leu) | |
| 5 | g.140114877C= | CA1586595660 | PURA | c.696C= (p.Phe232=) | |
| 5 | g.140114877C>G | CA361491337 | PURA | c.696C>G (p.Phe232Leu) | |
| 5 | g.140114877C>T | CA3437495 | PURA | c.696C>T (p.Phe232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114878T>A | CA361491339 | PURA | c.697T>A (p.Phe233Ile) | |
| 5 | g.140114878T>C | CA361491338 | PURA | c.697T>C (p.Phe233Leu) | |
| 5 | g.140114878T>G | CA361491340 | PURA | c.697T>G (p.Phe233Val) | |
| 5 | g.140114879T>A | CA361491341 | PURA | c.698T>A (p.Phe233Tyr) | |
| 5 | g.140114879T>C | CA090931 | PURA | c.698T>C (p.Phe233Ser) | |
| 5 | g.140114879T>G | CA361491342 | PURA | c.698T>G (p.Phe233Cys) | |
| 5 | g.140114880C>A | CA361491343 | PURA | c.699C>A (p.Phe233Leu) | |
| 5 | g.140114880C= | CA1586595671 | PURA | c.699C= (p.Phe233=) | |
| 5 | g.140114880C>G | CA361491344 | PURA | c.699C>G (p.Phe233Leu) | |
| 5 | g.140114880C>T | CA3437496 | PURA | c.699C>T (p.Phe233=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114881G>A | CA361491345 | PURA | c.700G>A (p.Asp234Asn) | |
| 5 | g.140114881G>C | CA361491346 | PURA | c.700G>C (p.Asp234His) | |
| 5 | g.140114881G>T | CA361491347 | PURA | c.700G>T (p.Asp234Tyr) | |
| 5 | g.140114882A>C | CA361491348 | PURA | c.701A>C (p.Asp234Ala) | |
| 5 | g.140114882A>G | CA361491349 | PURA | c.701A>G (p.Asp234Gly) | |
| 5 | g.140114882A>T | CA361491350 | PURA | c.701A>T (p.Asp234Val) | |
| 5 | g.140114883T>A | CA361491351 | PURA | c.702T>A (p.Asp234Glu) | |
| 5 | g.140114883T>C | CA446830712 | PURA | c.702T>C (p.Asp234=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114883T>G | CA361491352 | PURA | c.702T>G (p.Asp234Glu) | |
| 5 | g.140114883T= | CA1586595687 | PURA | c.702T= (p.Asp234=) | |
| 5 | g.140114883_140114884delinsTG | CA1586595688 | PURA | c.702_703delinsTG (p.Asp234=) | |
| 5 | g.140114884del | CA1139659106 | PURA | c.703del (p.Val235TrpfsTer12) | ClinVar dbSNP |
| 5 | g.140114884G>A | CA361491355 | PURA | c.703G>A (p.Val235Met) | |
| 5 | g.140114884G>C | CA361491354 | PURA | c.703G>C (p.Val235Leu) | gnomAD v4 |
| 5 | g.140114884G>T | CA361491353 | PURA | c.703G>T (p.Val235Leu) | |
| 5 | g.140114885T>A | CA361491356 | PURA | c.704T>A (p.Val235Glu) | |
| 5 | g.140114885T>C | CA361491357 | PURA | c.704T>C (p.Val235Ala) | |
| 5 | g.140114885T>G | CA16604710 | PURA | c.704T>G (p.Val235Gly) | ClinVar dbSNP |
| 5 | g.140114885T= | CA1586595694 | PURA | c.704T= (p.Val235=) | |
| 5 | g.140114886G>A | CA446830713 | PURA | c.705G>A (p.Val235=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114886G>C | CA446830714 | PURA | c.705G>C (p.Val235=) | |
| 5 | g.140114886G= | CA1586595702 | PURA | c.705G= (p.Val235=) | |
| 5 | g.140114886G>T | CA446830715 | PURA | c.705G>T (p.Val235=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114887G>A | CA361491358 | PURA | c.706G>A (p.Gly236Ser) | |
| 5 | g.140114887G>C | CA361491359 | PURA | c.706G>C (p.Gly236Arg) | |
| 5 | g.140114887G>T | CA361491360 | PURA | c.706G>T (p.Gly236Cys) | |
| 5 | g.140114888G>A | CA361491361 | PURA | c.707G>A (p.Gly236Asp) | |
| 5 | g.140114888G>C | CA361491362 | PURA | c.707G>C (p.Gly236Ala) | |
| 5 | g.140114888G>T | CA361491363 | PURA | c.707G>T (p.Gly236Val) | |
| 5 | g.140114889C>A | CA446830719 | PURA | c.708C>A (p.Gly236=) | |
| 5 | g.140114889C= | CA1586595710 | PURA | c.708C= (p.Gly236=) | |
| 5 | g.140114889C>G | CA446830720 | PURA | c.708C>G (p.Gly236=) | |
| 5 | g.140114889C>T | CA446830721 | PURA | c.708C>T (p.Gly236=) | dbSNP COSMIC |
| 5 | g.140114890T>A | CA361491364 | PURA | c.709T>A (p.Ser237Thr) | |
| 5 | g.140114890T>C | CA361491365 | PURA | c.709T>C (p.Ser237Pro) | |
| 5 | g.140114890T>G | CA361491366 | PURA | c.709T>G (p.Ser237Ala) | |
| 5 | g.140114890T= | CA1586595718 | PURA | c.709T= (p.Ser237=) | |
| 5 | g.140114891C>A | CA361491368 | PURA | c.710C>A (p.Ser237Tyr) | |
| 5 | g.140114891C= | CA1586595733 | PURA | c.710C= (p.Ser237=) | |
| 5 | g.140114891C>G | CA361491367 | PURA | c.710C>G (p.Ser237Cys) | gnomAD v4 |
| 5 | g.140114891C>T | CA10588951 | PURA | c.710C>T (p.Ser237Phe) | ClinVar dbSNP |
| 5 | g.140114892dup | CA10602930 | PURA | c.711dup (p.Asn238GlnfsTer?) | ClinVar dbSNP |
| 5 | g.140114892C>A | CA446830727 | PURA | c.711C>A (p.Ser237=) | |
| 5 | g.140114892C>G | CA446830726 | PURA | c.711C>G (p.Ser237=) | |
| 5 | g.140114892C>T | CA446830725 | PURA | c.711C>T (p.Ser237=) | |
| 5 | g.140114893A>C | CA361491369 | PURA | c.712A>C (p.Asn238His) | |
| 5 | g.140114893A>G | CA361491370 | PURA | c.712A>G (p.Asn238Asp) | |
| 5 | g.140114893A>T | CA361491371 | PURA | c.712A>T (p.Asn238Tyr) | |
| 5 | g.140114894A>C | CA361491372 | PURA | c.713A>C (p.Asn238Thr) | |
| 5 | g.140114894A>G | CA361491373 | PURA | c.713A>G (p.Asn238Ser) | |
| 5 | g.140114894A>T | CA361491374 | PURA | c.713A>T (p.Asn238Ile) | |
| 5 | g.140114895C>A | CA361491375 | PURA | c.714C>A (p.Asn238Lys) | |
| 5 | g.140114895C= | CA1586595743 | PURA | c.714C= (p.Asn238=) | |
| 5 | g.140114895C>G | CA361491376 | PURA | c.714C>G (p.Asn238Lys) | |
| 5 | g.140114895C>T | CA446830728 | PURA | c.714C>T (p.Asn238=) | dbSNP gnomAD v4 |
| 5 | g.140114895_140114896delinsCA | CA1586595745 | PURA | c.714_715delinsCA (p.Asn238=) | |
| 5 | g.140114896A>C | CA361491377 | PURA | c.715A>C (p.Lys239Gln) | |
| 5 | g.140114896A>G | CA361491378 | PURA | c.715A>G (p.Lys239Glu) | |
| 5 | g.140114896A>T | CA361491379 | PURA | c.715A>T (p.Lys239Ter) | ClinVar dbSNP |
| 5 | g.140114897del | CA1586595747 | PURA | c.716del (p.Lys239SerfsTer8) | ClinVar dbSNP |
| 5 | g.140114897A>C | CA361491380 | PURA | c.716A>C (p.Lys239Thr) | |
| 5 | g.140114897A>G | CA361491381 | PURA | c.716A>G (p.Lys239Arg) | |
| 5 | g.140114897A>T | CA361491382 | PURA | c.716A>T (p.Lys239Met) | |
| 5 | g.140114898G>A | CA446830732 | PURA | c.717G>A (p.Lys239=) | gnomAD v4 |
| 5 | g.140114898G>C | CA361491383 | PURA | c.717G>C (p.Lys239Asn) | |
| 5 | g.140114898G>T | CA361491384 | PURA | c.717G>T (p.Lys239Asn) | |
| 5 | g.140114899T>A | CA361491385 | PURA | c.718T>A (p.Tyr240Asn) | |
| 5 | g.140114899T>C | CA361491386 | PURA | c.718T>C (p.Tyr240His) | |
| 5 | g.140114899T>G | CA361491387 | PURA | c.718T>G (p.Tyr240Asp) | |
| 5 | g.140114900A>C | CA361491388 | PURA | c.719A>C (p.Tyr240Ser) | |
| 5 | g.140114900A>G | CA361491389 | PURA | c.719A>G (p.Tyr240Cys) | |
| 5 | g.140114900A>T | CA361491390 | PURA | c.719A>T (p.Tyr240Phe) | |
| 5 | g.140114901C>A | CA361491391 | PURA | c.720C>A (p.Tyr240Ter) | |
| 5 | g.140114901C= | CA1586595753 | PURA | c.720C= (p.Tyr240=) | |
| 5 | g.140114901C>G | CA361491392 | PURA | c.720C>G (p.Tyr240Ter) | ClinVar dbSNP |
| 5 | g.140114901C>T | CA446830734 | PURA | c.720C>T (p.Tyr240=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114902G>A | CA361491393 | PURA | c.721G>A (p.Gly241Ser) | |
| 5 | g.140114902G>C | CA361491394 | PURA | c.721G>C (p.Gly241Arg) | gnomAD v4 |
| 5 | g.140114902G>T | CA361491395 | PURA | c.721G>T (p.Gly241Cys) | |
| 5 | g.140114903del | CA658774049 | PURA | c.722del (p.Gly241AlafsTer6) | |
| 5 | g.140114903G>A | CA361491398 | PURA | c.722G>A (p.Gly241Asp) | |
| 5 | g.140114903G>C | CA361491397 | PURA | c.722G>C (p.Gly241Ala) | |
| 5 | g.140114903G>T | CA361491396 | PURA | c.722G>T (p.Gly241Val) | |
| 5 | g.140114904C>A | CA446830736 | PURA | c.723C>A (p.Gly241=) | |
| 5 | g.140114904C= | CA1586595767 | PURA | c.723C= (p.Gly241=) | |
| 5 | g.140114904C>G | CA446830737 | PURA | c.723C>G (p.Gly241=) | |
| 5 | g.140114904C>T | CA3437497 | PURA | c.723C>T (p.Gly241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114904_140114906delinsCGT | CA1586595762 | PURA | c.723_725delinsCGT (p.Gly241=) | |
| 5 | g.140114905G>A | CA361491399 | PURA | c.724G>A (p.Val242Met) | |
| 5 | g.140114905G>C | CA361491400 | PURA | c.724G>C (p.Val242Leu) | |
| 5 | g.140114905G= | CA1586595773 | PURA | c.724G= (p.Val242=) | |
| 5 | g.140114905G>T | CA361491401 | PURA | c.724G>T (p.Val242Leu) | |
| 5 | g.140114907_140114908del | CA199215 | PURA | c.726_727del (p.Phe243TyrfsTer?) | ClinVar dbSNP |
| 5 | g.140114906T>A | CA361491402 | PURA | c.725T>A (p.Val242Glu) | |
| 5 | g.140114906T>C | CA361491403 | PURA | c.725T>C (p.Val242Ala) | gnomAD v4 |
| 5 | g.140114906T>G | CA361491404 | PURA | c.725T>G (p.Val242Gly) | |
| 5 | g.140114906dup | CA658683430 | PURA | c.725dup (p.Phe243ValfsTer?) | ClinVar dbSNP |
| 5 | g.140114907G>A | CA446830740 | PURA | c.726G>A (p.Val242=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114907G>C | CA446830741 | PURA | c.726G>C (p.Val242=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114907G= | CA1586595794 | PURA | c.726G= (p.Val242=) | |
| 5 | g.140114907G>T | CA446830739 | PURA | c.726G>T (p.Val242=) | |
| 5 | g.140114908T>A | CA361491405 | PURA | c.727T>A (p.Phe243Ile) | |
| 5 | g.140114908T>C | CA361491406 | PURA | c.727T>C (p.Phe243Leu) | |
| 5 | g.140114908T>G | CA361491407 | PURA | c.727T>G (p.Phe243Val) | |
| 5 | g.140114909T>A | CA361491408 | PURA | c.728T>A (p.Phe243Tyr) | |
| 5 | g.140114909T>C | CA361491409 | PURA | c.728T>C (p.Phe243Ser) | |
| 5 | g.140114909T>G | CA361491410 | PURA | c.728T>G (p.Phe243Cys) | |
| 5 | g.140114910T>A | CA361491412 | PURA | c.729T>A (p.Phe243Leu) | |
| 5 | g.140114910T>C | CA446830743 | PURA | c.729T>C (p.Phe243=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114910T>G | CA361491411 | PURA | c.729T>G (p.Phe243Leu) | |
| 5 | g.140114910T= | CA1586595799 | PURA | c.729T= (p.Phe243=) | |
| 5 | g.140114911A= | CA1586595812 | PURA | c.730A= (p.Met244=) | |
| 5 | g.140114911A>C | CA3437498 | PURA | c.730A>C (p.Met244Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114911A>G | CA361491413 | PURA | c.730A>G (p.Met244Val) | gnomAD v4 |
| 5 | g.140114911A>T | CA361491414 | PURA | c.730A>T (p.Met244Leu) | |
| 5 | g.140114911dup | CA645548775 | PURA | c.730dup (p.Met244AsnfsTer?) | COSMIC |
| 5 | g.140114911_140114913del | CA2768634948 | PURA | c.730_732del (p.Met244del) | |
| 5 | g.140114912T>A | CA361491415 | PURA | c.731T>A (p.Met244Lys) | |
| 5 | g.140114912T>C | CA361491416 | PURA | c.731T>C (p.Met244Thr) | |
| 5 | g.140114912T>G | CA361491417 | PURA | c.731T>G (p.Met244Arg) | |
| 5 | g.140114913G>A | CA361491420 | PURA | c.732G>A (p.Met244Ile) | |
| 5 | g.140114913G>C | CA361491418 | PURA | c.732G>C (p.Met244Ile) | |
| 5 | g.140114913G>T | CA361491419 | PURA | c.732G>T (p.Met244Ile) | |
| 5 | g.140114914C>A | CA446830747 | PURA | c.733C>A (p.Arg245=) | |
| 5 | g.140114914C= | CA1586595820 | PURA | c.733C= (p.Arg245=) | |
| 5 | g.140114914C>G | CA361491421 | PURA | c.733C>G (p.Arg245Gly) | |
| 5 | g.140114914C>T | CA361491422 | PURA | c.733C>T (p.Arg245Ter) | ClinVar dbSNP |
| 5 | g.140114915G>A | CA361491423 | PURA | c.734G>A (p.Arg245Gln) | |
| 5 | g.140114915G>C | CA361491424 | PURA | c.734G>C (p.Arg245Pro) | ClinVar dbSNP |
| 5 | g.140114915G= | CA1586595827 | PURA | c.734G= (p.Arg245=) | |
| 5 | g.140114915G>T | CA361491425 | PURA | c.734G>T (p.Arg245Leu) | |
| 5 | g.140114916A= | CA1586595831 | PURA | c.735A= (p.Arg245=) | |
| 5 | g.140114916A>C | CA446830750 | PURA | c.735A>C (p.Arg245=) | |
| 5 | g.140114916A>G | CA446830753 | PURA | c.735A>G (p.Arg245=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114916A>T | CA446830755 | PURA | c.735A>T (p.Arg245=) | |
| 5 | g.140114917G>A | CA361491426 | PURA | c.736G>A (p.Val246Met) | |
| 5 | g.140114917G>C | CA3437499 | PURA | c.736G>C (p.Val246Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114917G= | CA1586595836 | PURA | c.736G= (p.Val246=) | |
| 5 | g.140114917G>T | CA361491427 | PURA | c.736G>T (p.Val246Leu) | |
| 5 | g.140114918T>A | CA361491428 | PURA | c.737T>A (p.Val246Glu) | |
| 5 | g.140114918T>C | CA361491429 | PURA | c.737T>C (p.Val246Ala) | |
| 5 | g.140114918T>G | CA361491430 | PURA | c.737T>G (p.Val246Gly) | |
| 5 | g.140114919G>A | CA446830760 | PURA | c.738G>A (p.Val246=) | gnomAD v4 |
| 5 | g.140114919G>C | CA446830763 | PURA | c.738G>C (p.Val246=) | |
| 5 | g.140114919G>T | CA446830762 | PURA | c.738G>T (p.Val246=) | |
| 5 | g.140114920A>C | CA361491431 | PURA | c.739A>C (p.Ser247Arg) | |
| 5 | g.140114920A>G | CA361491432 | PURA | c.739A>G (p.Ser247Gly) | |
| 5 | g.140114920A>T | CA361491433 | PURA | c.739A>T (p.Ser247Cys) | |
| 5 | g.140114921G>A | CA361491434 | PURA | c.740G>A (p.Ser247Asn) | |
| 5 | g.140114921G>C | CA361491435 | PURA | c.740G>C (p.Ser247Thr) | |
| 5 | g.140114921G>T | CA361491436 | PURA | c.740G>T (p.Ser247Ile) | |
| 5 | g.140114922C>A | CA361491437 | PURA | c.741C>A (p.Ser247Arg) | |
| 5 | g.140114922C= | CA1586595847 | PURA | c.741C= (p.Ser247=) | |
| 5 | g.140114922C>G | CA361491438 | PURA | c.741C>G (p.Ser247Arg) | |
| 5 | g.140114922C>T | CA3437500 | PURA | c.741C>T (p.Ser247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.140114923G>A | CA361491441 | PURA | c.742G>A (p.Glu248Lys) | |
| 5 | g.140114923G>C | CA361491439 | PURA | c.742G>C (p.Glu248Gln) | |
| 5 | g.140114923G>T | CA361491440 | PURA | c.742G>T (p.Glu248Ter) | |
| 5 | g.140114924A>C | CA361491442 | PURA | c.743A>C (p.Glu248Ala) | |
| 5 | g.140114924A>G | CA361491443 | PURA | c.743A>G (p.Glu248Gly) | |
| 5 | g.140114924A>T | CA361491444 | PURA | c.743A>T (p.Glu248Val) | |
| 5 | g.140114924_140114925delinsAG | CA1586595853 | PURA | c.743_744delinsAG (p.Glu248=) | |
| 5 | g.140114925G>A | CA446830768 | PURA | c.744G>A (p.Glu248=) | |
| 5 | g.140114925G>C | CA361491445 | PURA | c.744G>C (p.Glu248Asp) | |
| 5 | g.140114925G>T | CA361491446 | PURA | c.744G>T (p.Glu248Asp) | |
| 5 | g.140114926del | CA302666 | PURA | c.745del (p.Val249Ter) | ClinVar dbSNP |
| 5 | g.140114926G>A | CA361491447 | PURA | c.745G>A (p.Val249Met) | |
| 5 | g.140114926G>C | CA361491448 | PURA | c.745G>C (p.Val249Leu) | |
| 5 | g.140114926G>T | CA361491449 | PURA | c.745G>T (p.Val249Leu) | |
| 5 | g.140114927T>A | CA361491450 | PURA | c.746T>A (p.Val249Glu) | |
| 5 | g.140114927T>C | CA361491451 | PURA | c.746T>C (p.Val249Ala) | |
| 5 | g.140114927T>G | CA361491452 | PURA | c.746T>G (p.Val249Gly) | |
| 5 | g.140114927_140114930dup | CA658774050 | PURA | c.746_749dup (p.Lys250AsnfsTer?) | |
| 5 | g.140114928G>A | CA446830776 | PURA | c.747G>A (p.Val249=) | |
| 5 | g.140114928G>C | CA128789419 | PURA | c.747G>C (p.Val249=) | dbSNP |
| 5 | g.140114928G= | CA1586595863 | PURA | c.747G= (p.Val249=) | |
| 5 | g.140114928G>T | CA446830775 | PURA | c.747G>T (p.Val249=) | |
| 5 | g.140114929A>C | CA361491454 | PURA | c.748A>C (p.Lys250Gln) | |
| 5 | g.140114929A>G | CA361491453 | PURA | c.748A>G (p.Lys250Glu) | |
| 5 | g.140114929A>T | CA361491455 | PURA | c.748A>T (p.Lys250Ter) | |
| 5 | g.140114930A= | CA1586595865 | PURA | c.749A= (p.Lys250=) | |
| 5 | g.140114930A>C | CA361491456 | PURA | c.749A>C (p.Lys250Thr) | |
| 5 | g.140114930A>G | CA361491458 | PURA | c.749A>G (p.Lys250Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114930A>T | CA361491457 | PURA | c.749A>T (p.Lys250Met) | |
| 5 | g.140114931G>A | CA446830782 | PURA | c.750G>A (p.Lys250=) | |
| 5 | g.140114931G>C | CA361491459 | PURA | c.750G>C (p.Lys250Asn) | |
| 5 | g.140114931G>T | CA361491460 | PURA | c.750G>T (p.Lys250Asn) | |
| 5 | g.140114932C>A | CA361491461 | PURA | c.751C>A (p.Pro251Thr) | |
| 5 | g.140114932C>G | CA361491462 | PURA | c.751C>G (p.Pro251Ala) | gnomAD v4 |
| 5 | g.140114932C>T | CA361491463 | PURA | c.751C>T (p.Pro251Ser) | |
| 5 | g.140114933C>A | CA361491464 | PURA | c.752C>A (p.Pro251His) | |
| 5 | g.140114933C>G | CA361491465 | PURA | c.752C>G (p.Pro251Arg) | |
| 5 | g.140114933C>T | CA361491466 | PURA | c.752C>T (p.Pro251Leu) | |
| 5 | g.140114934C>A | CA446830786 | PURA | c.753C>A (p.Pro251=) | |
| 5 | g.140114934C= | CA1586595870 | PURA | c.753C= (p.Pro251=) | |
| 5 | g.140114934C>G | CA446830787 | PURA | c.753C>G (p.Pro251=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114934C>T | CA128789420 | PURA | c.753C>T (p.Pro251=) | dbSNP gnomAD v4 |
| 5 | g.140114935A>C | CA361491467 | PURA | c.754A>C (p.Thr252Pro) | |
| 5 | g.140114935A>G | CA361491468 | PURA | c.754A>G (p.Thr252Ala) | |
| 5 | g.140114935A>T | CA361491469 | PURA | c.754A>T (p.Thr252Ser) | |
| 5 | g.140114936C>A | CA361491472 | PURA | c.755C>A (p.Thr252Asn) | |
| 5 | g.140114936C= | CA1586595874 | PURA | c.755C= (p.Thr252=) | |
| 5 | g.140114936C>G | CA361491471 | PURA | c.755C>G (p.Thr252Ser) | dbSNP gnomAD v4 |
| 5 | g.140114936C>T | CA361491470 | PURA | c.755C>T (p.Thr252Ile) | |
| 5 | g.140114937C>A | CA446830793 | PURA | c.756C>A (p.Thr252=) | gnomAD v4 |
| 5 | g.140114937C>G | CA446830794 | PURA | c.756C>G (p.Thr252=) | |
| 5 | g.140114937C>T | CA446830795 | PURA | c.756C>T (p.Thr252=) | gnomAD v4 |
| 5 | g.140114938T>A | CA361491473 | PURA | c.757T>A (p.Tyr253Asn) | |
| 5 | g.140114938T>C | CA361491474 | PURA | c.757T>C (p.Tyr253His) | |
| 5 | g.140114938T>G | CA361491475 | PURA | c.757T>G (p.Tyr253Asp) | ClinVar |
| 5 | g.140114939A>C | CA361491476 | PURA | c.758A>C (p.Tyr253Ser) | |
| 5 | g.140114939A>G | CA361491477 | PURA | c.758A>G (p.Tyr253Cys) | |
| 5 | g.140114939A>T | CA361491478 | PURA | c.758A>T (p.Tyr253Phe) | |
| 5 | g.140114940T>A | CA361491479 | PURA | c.759T>A (p.Tyr253Ter) | |
| 5 | g.140114940T>C | CA446830799 | PURA | c.759T>C (p.Tyr253=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.140114940T>G | CA361491480 | PURA | c.759T>G (p.Tyr253Ter) | |
| 5 | g.140114940T= | CA1586595880 | PURA | c.759T= (p.Tyr253=) | |
| 5 | g.140114941C>A | CA361491481 | PURA | c.760C>A (p.Arg254Ser) | |
| 5 | g.140114941C>G | CA361491482 | PURA | c.760C>G (p.Arg254Gly) | |
| 5 | g.140114941C>T | CA361491483 | PURA | c.760C>T (p.Arg254Cys) |